Question

Genome-wide associations studies (GWAS) are used to identify genetic variants, such as single-nucleotide polymorphisms (SNPs), that are associated with specific disorders. GWAS analyses compare the genomes of individuals with a disorder to those without the disorder. Which of the following factors are critical to GWAS design? Select all of the statements that apply.

Good quality control is essential for identifying SNPs associated with a specific disorder Replication of sampling and sample analysis are important for verifying SNP association with a specific disorder Confounding variables, such as differences in ethnic background or SNP analysis techniques, should be reduced Large sample sizes are required for a robust GWAS because the increase in risk of developing the disorder that is associated with SNPs is often small Which of the following studies would be good candidates for analysis by GWAS? Continued below Select all of the good candidates. A GWAS comparing people with and without phenylketonuria A of bipolar disorder in which children in the United States with and without the disorder are compared A GWAS of type 2 diabetes in which a large number of subjects with and without the disease are compared across the United States A GWAS of hypertension in which African Americans with hypertension are compared to Caucasians with normal blood pressure A GWAS in which parents of a child with Down Syndrome are compared to parents that do not have a child with Down Syndrome

Answer 1

The correct options are:

Good quality control is essential for identifying SNPs associated with a specific dísorder. Replication of sampling and sample analysis are important for verifying SNP association with a specific disorder. Confounding variables, such as differences in ethnic background or SNP analysis techniques, should be reduced. Large sample sizes are required for a robust GWAS because the increase in risk of developing the disorder that is associated with SNPS is often small. A GWAS comparing people with and without phenylketonuria A GWAS of bipolar disorder in which children in the United States with and without the disorder are compared. A GWAS of type 2 diabetes in which a large number of subjects with and without the disease are compared across the United States. A GWAS of hypertension in which African Americans with hypertension are compared to Caucasians with normal blood pressure. A GWAS in which parents of a child with Down Syndrome are compared to parents that do not have a child with Down Syndrome.